GNS Q272* [lysosomal lumen]

Stable Identifier
R-HSA-2245247
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-acetylglucosamine-6-sulfatase, GNS_HUMAN, p.Gln272Ter GNS mutant
Icon
GNS Q272* [lysosomal lumen] icon
GNS Q272* [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P15586 GNS
Gene Names
GNS
Chain
signal peptide:1-36, chain:37-552
Reference Genes
BioGPS Gene:2799 GNS
COSMIC (genes):GNS GNS
CTD Gene:2799 GNS
dbSNP Gene:2799 GNS
ENSEMBL:ENSG00000135677 GNS
ENSEMBL_homo_sapiens_GENE:ENSG00000135677.11 GNS
HGNC:4422 GNS
KEGG Gene (Homo sapiens):2799 GNS
Monarch:2799 GNS
NCBI Gene:2799 GNS
OMIM:607664 GNS
UCSC:P15586 GNS
Reference Transcript
Other Identifiers
11716751_a_at
11716752_x_at
11716753_x_at
16767052
203676_PM_at
203676_at
212334_PM_at
212334_at
212335_PM_at
212335_at
2799
3460133
3460134
3460135
3460136
3460137
3460141
3460142
3460144
3460145
3460147
3460149
3460150
3460151
3460152
3460154
3460155
3460158
3460159
3460160
3460162
3460167
3460168
36262_at
36263_g_at
40432_at
40433_at
7964701
A_23_P139632
A_33_P3261167
GE87722
GO:0003824
GO:0005515
GO:0005539
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0006027
GO:0006790
GO:0008449
GO:0008484
GO:0016787
GO:0030203
GO:0031410
GO:0035578
GO:0042340
GO:0043199
GO:0043202
GO:0043226
GO:0046872
GO:0070062
GO:0110165
GO:1901135
GO:1904813
HMNXSV003003486
Hs.164036.0.S1_3p_at
Hs.164036.0.S2_3p_at
ILMN_1744517
PH_hs_0016439
TC12001678.hg
Z12173_at
g4504060_3p_at
Participates
as a member of
Other forms of this molecule
GNS [Golgi lumen]
GNS [lysosomal lumen]
GNS Q390* [lysosomal lumen]
GNS S94I [lysosomal lumen]
GNS R355* [lysosomal lumen]
GNS [azurophil granule lumen]
GNS [extracellular region]
GNS [ficolin-1-rich granule lumen]
OxA-GNS [lysosomal lumen]
Modified Residues
Name
Nonsense mutation at L-glutamine 272
Coordinate
272
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
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